Incidental Mutation 'R4492:Pitx1'
ID 330800
Institutional Source Beutler Lab
Gene Symbol Pitx1
Ensembl Gene ENSMUSG00000021506
Gene Name paired-like homeodomain transcription factor 1
Synonyms Ptx1, P-OTX, Potx, Bft
MMRRC Submission 041581-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.830) question?
Stock # R4492 (G1)
Quality Score 222
Status Not validated
Chromosome 13
Chromosomal Location 55972864-55984005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55976465 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 65 (K65E)
Ref Sequence ENSEMBL: ENSMUSP00000134609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021968] [ENSMUST00000173618]
AlphaFold P70314
Predicted Effect probably benign
Transcript: ENSMUST00000021968
AA Change: K65E

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021968
Gene: ENSMUSG00000021506
AA Change: K65E

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 152 9.19e-26 SMART
low complexity region 205 232 N/A INTRINSIC
Pfam:OAR 277 295 7.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173618
AA Change: K65E

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134609
Gene: ENSMUSG00000021506
AA Change: K65E

DomainStartEndE-ValueType
low complexity region 10 24 N/A INTRINSIC
low complexity region 70 81 N/A INTRINSIC
HOX 90 124 1.3e-1 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted null mutants have defects of hindlimbs, pelvis, mandible and submandibular gland, and decreased numbers of anterior pituitary cell types. Some mutants die in utero, but most die at birth, probably as a consequence of cleft palate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 T G 10: 89,561,676 (GRCm39) I157L probably benign Het
Amph T C 13: 19,333,928 (GRCm39) V663A possibly damaging Het
Anapc16 A G 10: 59,826,724 (GRCm39) S50P possibly damaging Het
Ank3 T A 10: 69,644,755 (GRCm39) V60D probably damaging Het
Btbd9 A G 17: 30,746,545 (GRCm39) Y94H probably damaging Het
Chil3 A G 3: 106,063,017 (GRCm39) I191T probably damaging Het
Clpb T C 7: 101,436,929 (GRCm39) L668P probably damaging Het
Cyp2d22 G A 15: 82,258,571 (GRCm39) H97Y probably benign Het
Dhrs7 A T 12: 72,699,899 (GRCm39) N244K probably damaging Het
Dusp4 C T 8: 35,274,890 (GRCm39) T3M possibly damaging Het
Edc4 GGATTTTAGCCA G 8: 106,611,700 (GRCm39) probably null Het
Etl4 G A 2: 20,811,676 (GRCm39) S1621N possibly damaging Het
Fam174a T C 1: 95,241,701 (GRCm39) S54P probably benign Het
Fdxacb1 T C 9: 50,681,547 (GRCm39) F7S probably damaging Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gpr156 T A 16: 37,812,468 (GRCm39) L268H probably damaging Het
Gpr17 A T 18: 32,080,304 (GRCm39) I253N possibly damaging Het
H2-T23 A T 17: 36,343,058 (GRCm39) N106K probably damaging Het
Hspa4 T C 11: 53,171,296 (GRCm39) R303G probably damaging Het
Irgm1 G A 11: 48,756,955 (GRCm39) silent Het
Jph1 A C 1: 17,067,770 (GRCm39) I114S probably damaging Het
Kcna1 C T 6: 126,619,238 (GRCm39) D361N possibly damaging Het
Kcna4 G A 2: 107,126,436 (GRCm39) R390Q probably damaging Het
Lum C A 10: 97,404,300 (GRCm39) P65H probably damaging Het
Mc4r A G 18: 66,992,711 (GRCm39) L134P probably benign Het
Mroh8 A T 2: 157,099,960 (GRCm39) I248N probably damaging Het
Nos2 A G 11: 78,840,921 (GRCm39) T677A probably benign Het
Nup37 T A 10: 88,010,791 (GRCm39) F257I possibly damaging Het
Or13c3 T C 4: 52,855,764 (GRCm39) I250V probably benign Het
Or6k6 C T 1: 173,944,770 (GRCm39) V271I probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pdzd2 A C 15: 12,419,567 (GRCm39) M501R possibly damaging Het
Pla1a C T 16: 38,229,972 (GRCm39) A247T probably benign Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Prss8 A G 7: 127,528,979 (GRCm39) S26P probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rock2 T A 12: 17,027,684 (GRCm39) C1334S probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Serpina6 A G 12: 103,613,146 (GRCm39) W385R probably damaging Het
Slc12a5 T C 2: 164,821,263 (GRCm39) M249T probably benign Het
Srsf9 T A 5: 115,470,651 (GRCm39) I117N probably damaging Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttc21a T C 9: 119,770,346 (GRCm39) V139A probably benign Het
Zfp236 A T 18: 82,648,125 (GRCm39) V1012D probably damaging Het
Zfp612 C A 8: 110,815,929 (GRCm39) Q379K probably damaging Het
Zfp930 C T 8: 69,680,898 (GRCm39) Q198* probably null Het
Other mutations in Pitx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01750:Pitx1 APN 13 55,974,304 (GRCm39) missense probably damaging 1.00
R5360:Pitx1 UTSW 13 55,976,291 (GRCm39) missense probably damaging 0.97
R5381:Pitx1 UTSW 13 55,973,892 (GRCm39) missense probably damaging 1.00
R5484:Pitx1 UTSW 13 55,974,166 (GRCm39) missense probably benign 0.01
R6314:Pitx1 UTSW 13 55,974,166 (GRCm39) missense possibly damaging 0.78
R6897:Pitx1 UTSW 13 55,976,335 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAAGCTACTGAGTGCCAGCC -3'
(R):5'- CTAGGGGTGCTTACTGAGAAC -3'

Sequencing Primer
(F):5'- TACTGAGTGCCAGCCGGTAG -3'
(R):5'- TGCTTACTGAGAACCGGCAC -3'
Posted On 2015-07-21